Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort. ME...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4253629/
https://ncbi.nlm.nih.gov/pubmed/25425405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0176-7
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